Further phenotype description, genotype characterization in patients with de novo interstitial deletion on 2p23.2-24.1
Further phenotype description, genotype characterization in patients with de novo interstitial deletion on 2p23.2-24.1
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DOI：
10.1002/ajmg.a.36516
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发表时间：
2014-07-01
影响因子：
2
通讯作者：
Sznajer, Yves
中科院分区：
文献类型：
--
作者：
Bloch, Mercedes;Leonard, Anissa;Sznajer, Yves
染色体2p远端的间质缺失似乎很少被识别或报道：到目前为止，只有9名不同的患者被发表。最后3例患者是使用更新的分子核型分析技术(SNP阵列)诊断的。我们报告一位8岁男童的自然病史，他具有畸形特征、出生后过度生长、小头畸形、广泛性低眼压和全球发育迟缓。诊断是通过SNP阵列调查完成的，该SNP阵列研究导致了2p23.2-p24.1的从头7.4Mb缺失。这位患者还出现了一种非综合征性听神经病。由于缺失包括OTOF基因，这种单倍性不足表明第二等位基因测序是可能的原因(DFNB9)。我们描述了患者的表型，并回顾了基因组时代到来后Del 2p23患者的报告。在鉴定新的微缺失和复制综合征时，本报告增加了对del(2)p(23.2；24.1)患者特别是2p23.2区域患者的表型的描述。(C)2014年威利期刊公司。
Interstitial deletions of the distal part of chromosome 2p seem to be rarely identified or reported: to date, only nine distinct patients have been published. The last three patients were diagnosed with the use of more recent molecular karyotyping technology (SNP array). We report on the natural history of an 8-year-old boy with dysmorphic features, postnatal overgrowth, microcephaly, generalized hypotonia, and global developmental delay. The diagnosis was accomplished by SNP array investigation that led to the identification of a de novo 7.4Mb deletion of 2p23.2-p24.1. The present patient also developed a nonsyndromic auditory neuropathy. Since the deletion encompassed the OTOF gene, this haploinsufficiency suggests second allele sequencing as a possible cause (DFNB9). We describe the phenotype of the patient and review reports in patients with del 2p23 subsequent to the advent of the genomic era. At the time of identification of new micro- deletion and -duplication syndromes, the present report adds to the description of phenotype in patients with del(2)p(23.2;24.1) and the 2p23.2 region in particular. (c) 2014 Wiley Periodicals, Inc.